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Page 1
Hypomyelination and Congenital Cataract: Clinical, Imaging, and Genetic Findings in Three Tunisian Families and Literature Review.
Kraoua I, Bouyacoub Y, Drissi C, Chargui M, Rebai I, Chebil A, Klaa H, Benrhouma H, Hassen A, Gouider-Khouja N, Abdelhak S, Boespflug-Tanguy O, Youssef-Turki IB, Dorboz I. Kraoua I, et al. Among authors: abdelhak s. Neuropediatrics. 2021 Aug;52(4):302-309. doi: 10.1055/s-0041-1728654. Epub 2021 Jun 30. Neuropediatrics. 2021. PMID: 34192786 Review.
Identification of two novel variants in PRKAG2 gene in Tunisian type 2 diabetic patients with family history of cardiovascular disease.
Nouira S, Arfa I, Kammoun I, Abid A, Ouragini H, Dorboz I, Ghazouani W, Fadhel SB, Zorgati MM, Ammar SB, Blousa-Chabchoub S, Kachboura S, Abdelhak S. Nouira S, et al. Among authors: abdelhak s. Diabetes Res Clin Pract. 2010 Feb;87(2):e7-10. doi: 10.1016/j.diabres.2009.11.009. Epub 2009 Dec 22. Diabetes Res Clin Pract. 2010. PMID: 20022652
Identification of a primarily neurological phenotypic expression of xeroderma pigmentosum complementation group A in a Tunisian family.
Messaoud O, Ben Rekaya M, Kefi R, Chebel S, Boughammoura-Bouatay A, Bel Hadj Ali H, Gouider-Khouja N, Zili J, Frih-Ayed M, Mokhtar I, Abdelhak S, Zghal M. Messaoud O, et al. Among authors: abdelhak s. Br J Dermatol. 2010 Apr;162(4):883-6. doi: 10.1111/j.1365-2133.2010.09646.x. Epub 2010 Feb 25. Br J Dermatol. 2010. PMID: 20199544
Clinical and genetic investigation of a large Tunisian family with complete achromatopsia: identification of a new nonsense mutation in GNAT2 gene.
Ouechtati F, Merdassi A, Bouyacoub Y, Largueche L, Derouiche K, Ouragini H, Nouira S, Tiab L, Baklouti K, Rebai A, Schorderet DF, Munier FL, Zografos L, Abdelhak S, El Matri L. Ouechtati F, et al. Among authors: abdelhak s. J Hum Genet. 2011 Jan;56(1):22-8. doi: 10.1038/jhg.2010.128. Epub 2010 Nov 25. J Hum Genet. 2011. PMID: 21107338
Genetic diseases in the Tunisian population.
Romdhane L, Abdelhak S; Research Unit on Molecular Investigation of Genetic Orphan Diseases; Collaborators. Romdhane L, et al. Among authors: abdelhak s. Am J Med Genet A. 2011 Jan;155A(1):238-67. doi: 10.1002/ajmg.a.33771. Am J Med Genet A. 2011. PMID: 21204241 Review.
Severe phenotypes in two Tunisian families with novel XPA mutations: evidence for a correlation between mutation location and disease severity.
Messaoud O, Rekaya MB, Ouragini H, Benfadhel S, Azaiez H, Kefi R, Gouider-Khouja N, Mokhtar I, Amouri A, Boubaker MS, Zghal M, Abdelhak S. Messaoud O, et al. Among authors: abdelhak s. Arch Dermatol Res. 2012 Mar;304(2):171-6. doi: 10.1007/s00403-011-1190-4. Epub 2011 Nov 12. Arch Dermatol Res. 2012. PMID: 22081045
Molecular and biochemical characterization of a novel intronic single point mutation in a Tunisian family with glycogen storage disease type III.
Ben Rhouma F, Azzouz H, Petit FM, Khelifa MB, Chehida AB, Nasrallah F, Parisot F, Lasram K, Kefi R, Bouyacoub Y, Romdhane L, Baussan C, Kaabachi N, Ben Dridi MF, Tebib N, Abdelhak S. Ben Rhouma F, et al. Among authors: abdelhak s. Mol Biol Rep. 2013 Jul;40(7):4197-202. doi: 10.1007/s11033-013-2500-z. Epub 2013 May 8. Mol Biol Rep. 2013. PMID: 23649758
249 results